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Abstract
Article abstract— The authors studied the relationship between the percentage level of A3243G mitochondrial DNA mutation and the degree of mitochondrial dysfunction in vivo in nine individuals from four pedigrees using phosphorus MRS in muscle. There was no significant correlation between mutation load and maximum rate of adenosine triphosphate production (Vmax). Vmax was normal in a subject with 32% A3243G in muscle, which is in contrast with a previous observation of markedly reduced Vmax in a patient with only 6% A3243G in muscle. Factors besides mutation load, such as nuclear genes, influence expression of the A3243G mutation in vivo.
- Received September 6, 2000.
- Accepted December 28, 2000.
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